FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3087029387> ?p ?o ?g. }

• W3087029387 abstract "Abstract Background Because of the significant occurrence of “WAGR-region” deletions among de novo mutations detected in congenital aniridia, DNA diagnosis is critical for all sporadic cases of aniridia due to its help in making an early diagnosis of WAGR syndrome. Standard cytogenetic karyotype study is a necessary step of molecular diagnostics in patients with deletions and in the patients’ parents as it reveals complex chromosomal rearrangements and the risk of having another affected child, as well as to provide prenatal and/or preimplantation diagnostics. Case presentation DNA samples were obtained from the proband (a 2-year-old boy) and his two healthy parents. Molecular analysis revealed a 977.065 kb deletion that removed loci of the ELP4 , PAX6 , and RCN1 genes but did not affect the coding sequence of the WT1 gene. The deletion occurred de novo on the paternal allele. The patient had normal karyotype 46,XY and a de novo pericentric inversion of chromosome 11, inv(11)(p13q14). Conclusions We confirmed the diagnosis of congenital aniridia at the molecular level. For the patient, the risk of developing Wilms’ tumor is similar to that in the general population. The recurrence risk for sibs in the family is low, but considering the possibility of gonadal mosaicism, it is higher than in the general population." @default.
• W3087029387 created "2020-09-25" @default.
• W3087029387 creator A5001033333 @default.
• W3087029387 creator A5001396342 @default.
• W3087029387 creator A5011001853 @default.
• W3087029387 creator A5019024924 @default.
• W3087029387 creator A5029476622 @default.
• W3087029387 creator A5033073343 @default.
• W3087029387 creator A5035684947 @default.
• W3087029387 creator A5038436430 @default.
• W3087029387 creator A5043772271 @default.
• W3087029387 creator A5054369414 @default.
• W3087029387 creator A5055684749 @default.
• W3087029387 creator A5056839973 @default.
• W3087029387 creator A5071603279 @default.
• W3087029387 creator A5074342487 @default.
• W3087029387 creator A5083951919 @default.
• W3087029387 date "2020-09-01" @default.
• W3087029387 modified "2023-09-26" @default.
• W3087029387 title "A sporadic case of congenital aniridia caused by pericentric inversion inv(11)(p13q14) associated with a 977 kb deletion in the 11p13 region" @default.
• W3087029387 cites W1544789027 @default.
• W3087029387 cites W1607896501 @default.
• W3087029387 cites W1982313475 @default.
• W3087029387 cites W2009437340 @default.
• W3087029387 cites W2083975416 @default.
• W3087029387 cites W2095549626 @default.
• W3087029387 cites W2115650042 @default.
• W3087029387 cites W2169716899 @default.
• W3087029387 cites W2336377857 @default.
• W3087029387 cites W2602953655 @default.
• W3087029387 cites W2755189773 @default.
• W3087029387 cites W2767042011 @default.
• W3087029387 cites W2800968671 @default.
• W3087029387 cites W2895431458 @default.
• W3087029387 cites W2901527454 @default.
• W3087029387 cites W2957714056 @default.
• W3087029387 cites W3189628172 @default.
• W3087029387 doi "https://doi.org/10.1186/s12920-020-00790-1" @default.
• W3087029387 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/7499969" @default.
• W3087029387 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/32948199" @default.
• W3087029387 hasPublicationYear "2020" @default.
• W3087029387 type Work @default.
• W3087029387 sameAs 3087029387 @default.
• W3087029387 citedByCount "3" @default.
• W3087029387 countsByYear W30870293872020 @default.
• W3087029387 countsByYear W30870293872022 @default.
• W3087029387 countsByYear W30870293872023 @default.
• W3087029387 crossrefType "journal-article" @default.
• W3087029387 hasAuthorship W3087029387A5001033333 @default.
• W3087029387 hasAuthorship W3087029387A5001396342 @default.
• W3087029387 hasAuthorship W3087029387A5011001853 @default.
• W3087029387 hasAuthorship W3087029387A5019024924 @default.
• W3087029387 hasAuthorship W3087029387A5029476622 @default.
• W3087029387 hasAuthorship W3087029387A5033073343 @default.
• W3087029387 hasAuthorship W3087029387A5035684947 @default.
• W3087029387 hasAuthorship W3087029387A5038436430 @default.
• W3087029387 hasAuthorship W3087029387A5043772271 @default.
• W3087029387 hasAuthorship W3087029387A5054369414 @default.
• W3087029387 hasAuthorship W3087029387A5055684749 @default.
• W3087029387 hasAuthorship W3087029387A5056839973 @default.
• W3087029387 hasAuthorship W3087029387A5071603279 @default.
• W3087029387 hasAuthorship W3087029387A5074342487 @default.
• W3087029387 hasAuthorship W3087029387A5083951919 @default.
• W3087029387 hasBestOaLocation W30870293871 @default.
• W3087029387 hasConcept C104317684 @default.
• W3087029387 hasConcept C165984737 @default.
• W3087029387 hasConcept C188997412 @default.
• W3087029387 hasConcept C2776608714 @default.
• W3087029387 hasConcept C2908647359 @default.
• W3087029387 hasConcept C30481170 @default.
• W3087029387 hasConcept C501734568 @default.
• W3087029387 hasConcept C51816534 @default.
• W3087029387 hasConcept C53226629 @default.
• W3087029387 hasConcept C54355233 @default.
• W3087029387 hasConcept C71924100 @default.
• W3087029387 hasConcept C7602840 @default.
• W3087029387 hasConcept C86339819 @default.
• W3087029387 hasConcept C86803240 @default.
• W3087029387 hasConcept C99454951 @default.
• W3087029387 hasConceptScore W3087029387C104317684 @default.
• W3087029387 hasConceptScore W3087029387C165984737 @default.
• W3087029387 hasConceptScore W3087029387C188997412 @default.
• W3087029387 hasConceptScore W3087029387C2776608714 @default.
• W3087029387 hasConceptScore W3087029387C2908647359 @default.
• W3087029387 hasConceptScore W3087029387C30481170 @default.
• W3087029387 hasConceptScore W3087029387C501734568 @default.
• W3087029387 hasConceptScore W3087029387C51816534 @default.
• W3087029387 hasConceptScore W3087029387C53226629 @default.
• W3087029387 hasConceptScore W3087029387C54355233 @default.
• W3087029387 hasConceptScore W3087029387C71924100 @default.
• W3087029387 hasConceptScore W3087029387C7602840 @default.
• W3087029387 hasConceptScore W3087029387C86339819 @default.
• W3087029387 hasConceptScore W3087029387C86803240 @default.
• W3087029387 hasConceptScore W3087029387C99454951 @default.
• W3087029387 hasFunder F4320324099 @default.
• W3087029387 hasIssue "S8" @default.
• W3087029387 hasLocation W30870293871 @default.
• W3087029387 hasLocation W30870293872 @default.
• W3087029387 hasOpenAccess W3087029387 @default.
• W3087029387 hasPrimaryLocation W30870293871 @default.

• next